Morales-Peralta E

Language: English
References: 2
Page: 79
PDF size: 83.21 Kb.

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Genetic testing uses advanced laboratory techniques to identify protein alterations, certain metabolites, chromosomes, or nucleic acids by which a genotype is determined or inferred. These tests provide insights into the molecular basis and physiopathology of genetic diseases, information which is critical for prevention, treatment and genetic counseling.
Initiated in 1982, Cuba's National Program for Diagnosis, Management and Prevention of Birth Defects and Hereditary Diseases ensures availability of genetic tests to all Cubans who need them, free of charge, assisting physician–patient decisions. The tests may be used to confirm diagnoses, point to hereditary diseases and potential congenital problems during pregnancy or in pre-symptomatic stages, and diagnose carriers of recessive diseases.

REFERENCES

1. Moreno MA. El diagnóstico médico. Principios seculares y problemas actuales. Havana: Editorial Científico Técnica; 2001. 178 p. Spanish.

2. Online Mendelian Inheritance in Man [Internet]. Baltimore: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University; 2014 Jan 23 [cited 2014 April 4]. Available at: http://omim.org